Varaico: Literature-Extracted Genetic Variants

Gene:EXO1
Variant:p.K256E

EXO1

925 papers

RefSeq Summary

This gene encodes a protein with 5' to 3' exonuclease activity as well as an RNase H activity. It is similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 and which is involve...

Pfam Domains

XPG_Naa 1–99UCSCXPG N-terminal domain
XPG_Iaa 141–225UCSCXPG I-region

Gene Aliases

HGNC Name

exonuclease 1

HGNC Alias Symbols

HEX1; hExoI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_130398.4
p.K256E
c.766A>G
Surrounding Variants
1 paper
NM_130398.4
p.I257V
c.769A>G
1 paper
NM_130398.4
p.K255*
c.763A>T
1 paper
NM_130398.4
p.V253I
c.757G>A
1 paper
NM_130398.4
p.K252_V253Splc
c.757-2A>G
1 paper
NM_130398.4
p.Y260insFs
c.778_779insG
1 paper
NM_130398.4
p.Y260F
c.779A>T
1 paper
NM_130398.4
p.L261L
c.783C>G
2 papers
NM_130398.4
p.K262R
c.785A>G
1 paper
NM_130398.4
p.I265I
c.795C>T
1 paper
NM_130398.4
p.T266R
c.797C>G
1 paper
NM_130398.4
p.T266M
c.797C>T
1 paper
NM_130398.4
p.P268S
c.802C>T
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